Varaico: Literature-Extracted Genetic Variants

Gene:FBXW7
Variant:p.H580Y
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FBXW7

NM_001349798.2:p.H580Y

Associated Papers

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Muhammad A et al.

Epilepsia Open, 2026

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Saito Y et al.

Journal of Human Genetics, 2025

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.

Meier-Abt F et al.

American Journal of Medical Genetics. Part A, 2024

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

Global and context-specific transcriptional consequences of oncogenic Fbw7 mutations.

Thirimanne HN et al.

Elife, 2022

35225231 (PubMed )
Supplement: elife-74338-fig5-data2.xlsx › Fbw7_Mutant

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers.

Hänninen UA et al.

British Journal of Cancer, 2019

30894686 (PubMed )
Supplement: 41416_2019_427_MOESM4_ESM.xlsx › Sheet1
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